Mutagenetix > Incidental Mutation

Incidental Mutation 'R2078:Slc38a11'

229257

Institutional Source

Beutler Lab

Gene Symbol

Slc38a11

Ensembl Gene

ENSMUSG00000061171

Gene Name

solute carrier family 38, member 11

Synonyms

9330158F14Rik

MMRRC Submission

040083-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2078 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

65146774-65194378 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 65160728 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 289 (F289I)

Ref Sequence

ENSEMBL: ENSMUSP00000121205 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112420] [ENSMUST00000152324]

AlphaFold

Q3USY0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112420
AA Change: F289I

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108039
Gene: ENSMUSG00000061171
AA Change: F289I

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	32	420	1.6e-66	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000124918
AA Change: F249I

SMART Domains

Protein: ENSMUSP00000120185
Gene: ENSMUSG00000061171
AA Change: F249I

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	26	381	8.5e-51	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000127623
AA Change: F213I

SMART Domains

Protein: ENSMUSP00000120737
Gene: ENSMUSG00000061171
AA Change: F213I

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	1	345	1.2e-46	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000152324
AA Change: F289I

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000121205
Gene: ENSMUSG00000061171
AA Change: F289I

Domain	Start	End	E-Value	Type
Pfam:Aa_trans	32	367	4.8e-58	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb6	C	A	1: 75,148,780 (GRCm39)	G55C	probably damaging	Het
Acss3	T	C	10: 106,802,902 (GRCm39)	T448A	possibly damaging	Het
Atxn7	A	G	14: 14,052,975 (GRCm38)	N138D	probably damaging	Het
Cacna2d4	A	T	6: 119,315,077 (GRCm39)	D869V	probably benign	Het
Cps1	T	G	1: 67,196,965 (GRCm39)	Y339D	probably damaging	Het
Cps1	T	C	1: 67,234,424 (GRCm39)	I937T	possibly damaging	Het
Dlgap4	T	C	2: 156,604,746 (GRCm39)	S261P	probably damaging	Het
Dusp6	T	C	10: 99,099,686 (GRCm39)	Y45H	probably damaging	Het
Ebag9	A	G	15: 44,500,200 (GRCm39)	N157S	probably damaging	Het
Exoc4	A	G	6: 33,887,522 (GRCm39)	D770G	probably benign	Het
Ezr	A	G	17: 7,050,041 (GRCm39)	M1T	probably null	Het
Fat4	A	G	3: 38,943,822 (GRCm39)	N905S	probably damaging	Het
Fcrlb	C	G	1: 170,735,650 (GRCm39)	R208P	probably damaging	Het
Flnb	T	C	14: 7,927,466 (GRCm38)	V1892A	probably damaging	Het
Gas2	G	A	7: 51,547,073 (GRCm39)	V75M	probably benign	Het
Gda	T	A	19: 21,378,036 (GRCm39)	D267V	probably damaging	Het
Gper1	A	T	5: 139,411,888 (GRCm39)	I78F	probably benign	Het
Hectd1	A	C	12: 51,795,325 (GRCm39)	I2368S	probably damaging	Het
Katna1	C	T	10: 7,619,333 (GRCm39)	P114S	probably benign	Het
Lce3c	G	A	3: 92,852,758 (GRCm39)	S73N	unknown	Het
Lrfn3	A	T	7: 30,059,879 (GRCm39)	D115E	possibly damaging	Het
Lrrc47	C	A	4: 154,103,888 (GRCm39)	T505K	probably damaging	Het
Mertk	C	T	2: 128,636,378 (GRCm39)	T784I	probably damaging	Het
Mettl21e	T	A	1: 44,245,662 (GRCm39)	I195F	possibly damaging	Het
Mff	T	C	1: 82,719,642 (GRCm39)	S207P	probably damaging	Het
Mtmr6	A	G	14: 60,529,436 (GRCm39)		probably null	Het
Myh9	T	C	15: 77,648,112 (GRCm39)	K1788R	probably benign	Het
Narf	A	G	11: 121,136,220 (GRCm39)	T199A	probably benign	Het
Neurod6	A	G	6: 55,655,954 (GRCm39)	S228P	probably benign	Het
Notch4	A	T	17: 34,787,689 (GRCm39)		probably null	Het
Nyap2	T	C	1: 81,169,696 (GRCm39)	L151P	probably damaging	Het
Or5b21	T	A	19: 12,839,751 (GRCm39)	V204E	probably benign	Het
P2ry1	A	G	3: 60,911,118 (GRCm39)	I86V	probably damaging	Het
Pafah1b2	G	T	9: 45,880,127 (GRCm39)	D183E	probably damaging	Het
Phldb1	T	C	9: 44,619,276 (GRCm39)	E179G	probably damaging	Het
Piezo2	T	C	18: 63,250,791 (GRCm39)	E436G	probably damaging	Het
Pkhd1l1	A	G	15: 44,391,163 (GRCm39)	I1514V	probably benign	Het
Plch1	A	G	3: 63,609,364 (GRCm39)	S948P	probably benign	Het
Rfc5	A	G	5: 117,518,868 (GRCm39)	V296A	probably benign	Het
Rnf150	A	T	8: 83,730,234 (GRCm39)	I255F	probably damaging	Het
Rsbn1	A	G	3: 103,868,839 (GRCm39)	D626G	probably damaging	Het
Sfswap	A	G	5: 129,593,171 (GRCm39)	D346G	possibly damaging	Het
Terf2ip	A	G	8: 112,742,035 (GRCm39)	N243S	probably benign	Het
Tmed5	A	T	5: 108,272,471 (GRCm39)	V209E	probably damaging	Het
Tmem63b	A	G	17: 45,974,462 (GRCm39)	S603P	possibly damaging	Het
Tomm20	T	C	8: 127,663,822 (GRCm39)	M121V	possibly damaging	Het
Tspan33	G	A	6: 29,709,970 (GRCm39)	V45I	probably benign	Het
Usp17la	A	T	7: 104,508,600 (GRCm39)	M1L	probably benign	Het
Vsig8	C	A	1: 172,390,856 (GRCm39)	D301E	probably benign	Het
Vwa8	T	A	14: 79,145,597 (GRCm39)	H91Q	probably damaging	Het

Other mutations in Slc38a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Slc38a11	APN	2	65,184,126 (GRCm39)	missense	probably damaging	1.00
IGL01467:Slc38a11	APN	2	65,147,200 (GRCm39)	missense	probably benign	0.00
IGL02585:Slc38a11	APN	2	65,166,135 (GRCm39)	missense	probably benign	0.01
IGL03001:Slc38a11	APN	2	65,184,159 (GRCm39)	missense	probably damaging	0.97
R0458:Slc38a11	UTSW	2	65,193,813 (GRCm39)	critical splice acceptor site	probably null
R0514:Slc38a11	UTSW	2	65,147,209 (GRCm39)	missense	probably benign	0.08
R0815:Slc38a11	UTSW	2	65,184,124 (GRCm39)	missense	possibly damaging	0.79
R1695:Slc38a11	UTSW	2	65,147,315 (GRCm39)	missense	probably damaging	1.00
R1751:Slc38a11	UTSW	2	65,180,452 (GRCm39)	missense	probably benign	0.44
R1760:Slc38a11	UTSW	2	65,185,663 (GRCm39)	splice site	probably null
R1854:Slc38a11	UTSW	2	65,193,860 (GRCm39)	splice site	probably null
R1961:Slc38a11	UTSW	2	65,160,683 (GRCm39)	missense	possibly damaging	0.65
R1991:Slc38a11	UTSW	2	65,160,683 (GRCm39)	missense	probably benign	0.22
R2046:Slc38a11	UTSW	2	65,188,529 (GRCm39)	missense	probably damaging	0.99
R2103:Slc38a11	UTSW	2	65,160,683 (GRCm39)	missense	probably benign	0.22
R3154:Slc38a11	UTSW	2	65,160,679 (GRCm39)	missense	probably damaging	0.98
R4358:Slc38a11	UTSW	2	65,188,460 (GRCm39)	missense	probably benign	0.01
R5635:Slc38a11	UTSW	2	65,191,747 (GRCm39)	critical splice acceptor site	probably null
R5729:Slc38a11	UTSW	2	65,147,365 (GRCm39)	missense	probably benign	0.00
R6059:Slc38a11	UTSW	2	65,165,089 (GRCm39)	missense	probably damaging	1.00
R6755:Slc38a11	UTSW	2	65,194,235 (GRCm39)	missense	probably benign
R7339:Slc38a11	UTSW	2	65,156,914 (GRCm39)	missense	probably benign
R7360:Slc38a11	UTSW	2	65,184,139 (GRCm39)	missense	possibly damaging	0.95
R8397:Slc38a11	UTSW	2	65,160,635 (GRCm39)	missense	probably damaging	1.00
R9648:Slc38a11	UTSW	2	65,188,484 (GRCm39)	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- GGCTGTATGAATCTATCCCCTG -3'
(R):5'- ACTTAGACCTGGTAATCTATGTGTC -3'

Sequencing Primer
(F):5'- ATGAATCTATCCCCTGTCATCATGTG -3'
(R):5'- ACCTGGTAATCTATGTGTCTTTAATG -3'

Posted On

2014-09-17